ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1086G>A (p.Lys362=)

gnomAD frequency: 0.00009  dbSNP: rs189837148
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323470 SCV000344293 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000323470 SCV001086971 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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